Incidental Mutation 'R8353:Nxnl1'
ID 660536
Institutional Source Beutler Lab
Gene Symbol Nxnl1
Ensembl Gene ENSMUSG00000034829
Gene Name nucleoredoxin-like 1
Synonyms Txnl6, RdCVF, A930031O08Rik
MMRRC Submission 067805-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8353 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 72013199-72019245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72015512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 132 (V132A)
Ref Sequence ENSEMBL: ENSMUSP00000127094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048243] [ENSMUST00000052072] [ENSMUST00000163659]
AlphaFold Q8VC33
Predicted Effect probably damaging
Transcript: ENSMUST00000048243
AA Change: V132A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039294
Gene: ENSMUSG00000034829
AA Change: V132A

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 32 132 2.8e-24 PFAM
low complexity region 187 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052072
SMART Domains Protein: ENSMUSP00000058317
Gene: ENSMUSG00000043664

DomainStartEndE-ValueType
Pfam:Jiraiya 10 186 1e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163659
AA Change: V132A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127094
Gene: ENSMUSG00000034829
AA Change: V132A

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 32 132 1.5e-22 PFAM
low complexity region 187 202 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a kncok-out allele exhibit reduced cone numbers, thin outer nuclear layer, impaired visibility and increased vulnerability to hyperoxia-induced damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,310,659 (GRCm39) T752A probably damaging Het
Adar A G 3: 89,657,569 (GRCm39) T508A possibly damaging Het
Atxn3 T A 12: 101,912,159 (GRCm39) K85I probably benign Het
Atxn7l1 G T 12: 33,197,882 (GRCm39) W50L probably damaging Het
Bahcc1 T C 11: 120,165,251 (GRCm39) V894A probably damaging Het
Bloc1s3 G T 7: 19,241,324 (GRCm39) T68K probably benign Het
Bmerb1 T A 16: 13,855,877 (GRCm39) probably null Het
Brd10 T C 19: 29,731,242 (GRCm39) H590R possibly damaging Het
C130073F10Rik C T 4: 101,747,881 (GRCm39) probably null Het
Cd55b T C 1: 130,341,870 (GRCm39) I256V probably benign Het
Celsr3 T A 9: 108,703,734 (GRCm39) D72E probably benign Het
Cep41 T C 6: 30,658,891 (GRCm39) D152G probably benign Het
Cip2a C T 16: 48,821,436 (GRCm39) Q181* probably null Het
Cpne8 C A 15: 90,425,496 (GRCm39) K285N possibly damaging Het
Csmd3 A T 15: 47,813,349 (GRCm39) I1061K probably damaging Het
Cspg4 A T 9: 56,805,953 (GRCm39) N2255Y probably damaging Het
Cym T A 3: 107,129,025 (GRCm39) probably benign Het
Cyp2d9 T C 15: 82,336,720 (GRCm39) V23A probably damaging Het
Dnah1 A T 14: 31,005,159 (GRCm39) I2365K probably benign Het
Dock5 C T 14: 68,054,957 (GRCm39) probably null Het
Dop1a A T 9: 86,403,639 (GRCm39) H1613L probably damaging Het
Dusp5 T C 19: 53,518,113 (GRCm39) V122A possibly damaging Het
Emc6 A G 11: 73,067,399 (GRCm39) L44P probably damaging Het
Fbxl6 G T 15: 76,422,678 (GRCm39) T80K probably benign Het
Frrs1 T A 3: 116,692,822 (GRCm39) M32K possibly damaging Het
Gfod1 A G 13: 43,354,366 (GRCm39) V203A possibly damaging Het
Gjc2 G A 11: 59,067,840 (GRCm39) A214V unknown Het
Gkn2 T C 6: 87,355,135 (GRCm39) Y115H probably damaging Het
Gpatch1 A C 7: 34,976,704 (GRCm39) probably benign Het
Hemgn G T 4: 46,403,935 (GRCm39) P20Q possibly damaging Het
Herc1 G T 9: 66,415,571 (GRCm39) V4849L possibly damaging Het
Hmcn2 A T 2: 31,275,353 (GRCm39) probably null Het
Htt C A 5: 35,034,499 (GRCm39) T1990N possibly damaging Het
Jrk C T 15: 74,578,474 (GRCm39) W270* probably null Het
Katnb1 A G 8: 95,822,072 (GRCm39) D266G probably damaging Het
Klhl42 A G 6: 147,009,421 (GRCm39) K420R probably damaging Het
Lamb1 C A 12: 31,356,998 (GRCm39) T1035K probably damaging Het
Laptm5 T C 4: 130,656,079 (GRCm39) probably null Het
Lilra5 T C 7: 4,240,971 (GRCm39) S22P probably benign Het
Mn1 A G 5: 111,568,505 (GRCm39) N825S possibly damaging Het
Mup17 C T 4: 61,510,419 (GRCm39) probably null Het
Ncapd3 T A 9: 26,983,100 (GRCm39) D949E probably benign Het
Ncoa7 T C 10: 30,570,155 (GRCm39) E230G probably damaging Het
Oard1 A G 17: 48,723,788 (GRCm39) I145V probably benign Het
Pabpc4 T G 4: 123,189,846 (GRCm39) L555R probably benign Het
Ppp1r11 G T 17: 37,260,866 (GRCm39) S21R possibly damaging Het
Prr36 T C 8: 4,263,831 (GRCm39) probably benign Het
Serpina1a T A 12: 103,822,038 (GRCm39) D298V probably benign Het
Sqle A T 15: 59,196,314 (GRCm39) H369L possibly damaging Het
Stambp T C 6: 83,538,881 (GRCm39) E173G probably damaging Het
Syne1 T C 10: 5,300,983 (GRCm39) N915S probably damaging Het
Tjap1 C A 17: 46,593,530 (GRCm39) probably benign Het
Tmem62 A C 2: 120,814,817 (GRCm39) K30T probably damaging Het
Tmtc1 T C 6: 148,327,346 (GRCm39) T56A probably benign Het
Trav6-4 A T 14: 53,691,946 (GRCm39) M18L probably benign Het
Trim69 T C 2: 121,998,490 (GRCm39) I154T possibly damaging Het
Uggt1 T C 1: 36,209,377 (GRCm39) probably null Het
Usp48 T A 4: 137,350,693 (GRCm39) M60K probably benign Het
Usp7 A G 16: 8,513,735 (GRCm39) S753P probably benign Het
Vmn2r27 A C 6: 124,169,404 (GRCm39) N575K probably damaging Het
Wdfy4 A C 14: 32,695,581 (GRCm39) D2672E probably benign Het
Zdhhc17 G A 10: 110,845,803 (GRCm39) P30L probably benign Het
Zmym4 T A 4: 126,800,905 (GRCm39) Y565F possibly damaging Het
Other mutations in Nxnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:Nxnl1 UTSW 8 72,019,217 (GRCm39) missense probably damaging 0.96
R7028:Nxnl1 UTSW 8 72,015,437 (GRCm39) missense possibly damaging 0.94
R7108:Nxnl1 UTSW 8 72,019,198 (GRCm39) missense probably benign 0.00
R7397:Nxnl1 UTSW 8 72,019,105 (GRCm39) missense probably damaging 1.00
R7900:Nxnl1 UTSW 8 72,019,170 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTACTCGGTACTTGCGAC -3'
(R):5'- ATACAGATACATACAGCAAGTGGAC -3'

Sequencing Primer
(F):5'- CATCCAAATCCTCCGGTT -3'
(R):5'- TACATACAGCAAGTGGACACAGAAAG -3'
Posted On 2021-01-18